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ONTOLOGY REPORT - ANNOTATIONS


Term:Gillespie syndrome
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Accession:DOID:0111578 term browser browse the term
Definition:A syndrome characterized by iris hypoplasia, congenital hypotonia, cerebellar hypoplasia, variably cognitive impairment, and ataxia that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in ITPR1 on chromosome 3p26.1. (DO)
Synonyms:exact_synonym: ANIRIDIA, CEREBELLAR ATAXIA, AND MENTAL RETARDATION;   Aniridia, partial-cerebellar ataxia-mental retardation;   GLSP;   aniridia, cerebellar ataxia, and mental deficiency;   aniridia, cerebellar ataxia, mental deficiency;   aniridia, partial-cerebellar ataxia-oligophrenia;   aniridia-cerebellar ataxia-intellectual disability syndrome
 narrow_synonym: spinocerebellar ataxia, ITPR1-related
 primary_id: MESH:C536370
 alt_id: DOID:9004158;   OMIA:002097;   OMIM:206700
 xref: GARD:13;   ORDO:1065
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Gillespie syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Itpr1 inositol 1,4,5-trisphosphate receptor, type 1 JBrowse link 4 140,247,297 140,580,749 RGD:8554872
RGD:7240710

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Term Annotations click to browse term
  disease 16021
    syndrome 6144
      Gillespie syndrome 1
Path 2
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  disease 16021
    disease of anatomical entity 15274
      nervous system disease 10770
        central nervous system disease 8860
          brain disease 8147
            movement disease 1070
              Dyskinesias 780
                Ataxia 335
                  hereditary ataxia 219
                    cerebellar ataxia 186
                      Gillespie syndrome 1
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